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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
TTC8
(HGNC:20087)
Bardet-Biedl syndrome
(MONDO_0015229)
 Definitive
PCSK9
(HGNC:20001)
homozygous familial hypercholesterolemia
(MONDO_0018328)
 Moderate
USP45
(HGNC:20080)
Leber congenital amaurosis
(MONDO_0018998)
 Moderate
GREM1
(HGNC:2001)
hereditary mixed polyposis syndrome
(MONDO_0011023)
 Strong
CYCS
(HGNC:19986)
thrombocytopenia 4
(MONDO_0012775)
 Moderate
RDH12
(HGNC:19977)
Leber congenital amaurosis
(MONDO_0018998)
 Definitive
RDH12
(HGNC:19977)
retinitis pigmentosa
(MONDO_0019200)
 Strong
CCDC88C
(HGNC:19967)
spinocerebellar ataxia type 40
(MONDO_0014475)
 Strong
TTLL5
(HGNC:19963)
cone-rod dystrophy
(MONDO_0015993)
 Strong
KIAA0586
(HGNC:19960)
Joubert syndrome 23
(MONDO_0014664)
 Moderate
KIAA0586
(HGNC:19960)
Joubert syndrome
(MONDO_0018772)
 Definitive
SLC25A22
(HGNC:19954)
malignant migrating partial seizures of infancy
(MONDO_0017385)
 Strong
SLC25A22
(HGNC:19954)
early myoclonic encephalopathy
(MONDO_0016022)
 Strong
TRAPPC4
(HGNC:19943)
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
(MONDO_0032894)
 Strong
CIT
(HGNC:1985)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Moderate
ISCA2
(HGNC:19857)
multiple mitochondrial dysfunctions syndrome 4
(MONDO_0014611)
 Strong
VSX2
(HGNC:1975)
microphthalmia
(MONDO_0021129)
 Moderate
TTC7A
(HGNC:19750)
multiple intestinal atresia
(MONDO_0009465)
 Strong
CHUK
(HGNC:1974)
cocoon syndrome
(MONDO_0013334)
 Moderate
EVC2
(HGNC:19747)
acrofacial dysostosis, Weyers type
(MONDO_0008673)
 Strong
Showing 2801–2820 of 6681